Associated Papers
A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
D'Incal CP et al.
European Journal of Human Genetics : Ejhg, 2025
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF et al.
American Journal of Medical Genetics. Part A, 2018
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Quartier A et al.
European Journal of Human Genetics : Ejhg, 2017
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
25644381 (PubMed )
Supplement: mp2014193x1.pdf
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